Schimke immuno-osseous dysplasia
ORPHA:1830DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)73
Очень частый (80–99%)7
HP:0000093Proteinuria
HP:0000097Focal segmental glomerulosclerosis
HP:0000112Nephropathy
HP:0001511Intrauterine growth retardation
HP:0003368Abnormality of the femoral head
HP:0004322Short stature
HP:0031409Abnormal lymphocyte physiology
Частый (30–79%)35
HP:0011840Abnormality of T cell physiology
HP:0000455Broad nasal tip
HP:0000691Microdontia
HP:0000707Abnormality of the nervous system
HP:0000822Hypertension
HP:0000926Platyspondyly
HP:0001003Multiple lentigines
HP:0001034Hypermelanotic macule
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001297Stroke
HP:0001510Growth delay
HP:0001622Premature birth
HP:0001875Decreased total neutrophil count
HP:0001888Lymphopenia
HP:0001903Anemia
HP:0001999Abnormal facial shape
HP:0002315Headache
HP:0002621Atherosclerosis
HP:0002637Cerebral ischemia
HP:0002655Spondyloepiphyseal dysplasia
HP:0002719Recurrent infections
HP:0002926Abnormality of thyroid physiology
HP:0002938Lumbar hyperlordosis
HP:0003077Hyperlipidemia
HP:0003182Shallow acetabular fossae
HP:0003270Abdominal distention
HP:0003300Ovoid vertebral bodies
HP:0003521Disproportionate short-trunk short stature
HP:0005352Severe T-cell immunodeficiency
HP:0008784Wide capital femoral epiphyses
HP:0008839Hypoplastic pelvis
HP:0012593Nephrotic range proteinuria
HP:0410373Abnormal proportion of naive CD4 T cells
HP:0410377Reduced proportion of naive CD8 T cells
Периодический (5–29%)23
HP:0000470Short neck
HP:0000668Hypodontia
HP:0001260Dysarthria
HP:0001269Hemiparesis
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0001635Congestive heart failure
HP:0001873Thrombocytopenia
HP:0002092Pulmonary arterial hypertension
HP:0002133Status epilepticus
HP:0002140Ischemic stroke
HP:0002301Hemiplegia
HP:0002326Transient ischemic attack
HP:0002381Aphasia
HP:0002907Microscopic hematuria
HP:0003774Stage 5 chronic kidney disease
HP:0004931Arteriosclerosis of small cerebral arteries
HP:0005280Depressed nasal bridge
HP:0006344Abnormality of primary molar morphology
HP:0006813Focal hemiclonic seizure
HP:0007957Corneal opacity
HP:0012579Minimal change glomerulonephritis
Очень редкий (1–4%)8
HP:0001298Encephalopathy
HP:0001733Pancreatitis
HP:0002242Abnormal intestine morphology
HP:0002376Developmental regression
HP:0002960Autoimmunity
HP:0005523Lymphoproliferative disorder
HP:0005528Bone marrow hypocellularity
HP:0012539Non-Hodgkin lymphoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 133 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)